Works matching DE "GENETIC variation"
Results: 5000
A Case of a Patient With MYH2-Associated Myopathy Presenting With a Chief Complaint of Hand Tremor.
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- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.932
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- Article
Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome.
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- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.926
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- Article
Association Analysis of Essential Tremor-Associated Genetic Variants in Sporadic Late-Onset Parkinson's Disease.
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- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.885
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- Article
A Novel KCNQ2 Variant in a Patient with a Combined Tremor Syndrome.
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- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.887
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- Article
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.
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- 2024
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- Case Study
L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine.
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- 2024
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- Case Study
Unveiling the Significance of the Androgen Receptor Gene in Disorders of Sex Development.
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- Advances in Human Biology, 2025, v. 15, n. 1, p. 138, doi. 10.4103/aihb.aihb_137_24
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- Article
Molecular and Hematological Analysis of Alpha Thalassemia in Middle East Patients; A Cross-Sectional Retrospective Study.
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- Egyptian Academic Journal of Biological Sciences, C Physiology & Molecular Biology, 2024, v. 16, n. 2, p. 455, doi. 10.21608/EAJBSC.2024.397463
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- Article
DNA Barcoding of Almond (Prunus dulcis) in Duhok Province-Kurdistan Region / Iraq Using 18S- 28S rRNA and ITS Region.
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- Egyptian Academic Journal of Biological Sciences, C Physiology & Molecular Biology, 2024, v. 16, n. 2, p. 95, doi. 10.21608/EAJBSC.2024.373514
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- Article
Assessment of genetic conservation units of an endangered glacial relict insular species, Amentotaxus formosana , based on fine-scale genetic structures of multiple fragmented mountainous populations in Taiwan.
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- Frontiers in Plant Science, 2025, p. 1, doi. 10.3389/fpls.2024.1512914
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- Article
Exploring Causal Correlations Between Inflammatory Cytokines and Kawasaki Disease: A Mendelian Randomization.
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- Fetal & Pediatric Pathology, 2025, v. 44, n. 1, p. 1, doi. 10.1080/15513815.2024.2414175
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- Article
Identifying novel heterozygous PI4KA variants in fetal abnormalities.
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- BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02093-9
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- Article
The complete mitochondrial genome of Scambus vesicarius Ratzeburg (Hymenoptera: ichneumonidae: pimplinae).
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- Mitochondrial DNA: Resources, 2025, v. 10, n. 2, p. 108, doi. 10.1080/23802359.2025.2451201
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- Article
Structural characterization and phylogenetic analysis of the chloroplast genome of Cryptocoryne crispatula var. balansae (gagnep.) N. Jacobsen 1991.
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- Mitochondrial DNA: Resources, 2025, v. 10, n. 2, p. 134, doi. 10.1080/23802359.2025.2449825
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- Article
Intraspecific identification and genetic diversity analysis of Paeonia lactiflora based on chloroplast genes rpoB and psbK-psbI.
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- Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-025-10275-y
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- Article
Personal history of irradiation and risk of breast cancer: A Mendelian randomisation study.
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- Journal of Global Health, 2024, v. 14, p. 1, doi. 10.7189/jogh.14.04106
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- Article
Genetic diversity of natural Silver fir populations in Bulgaria.
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- Silva Balcanica, 2024, v. 25, n. 3, p. 85, doi. 10.3897/silvabalcanica.25.e135501
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- Article
Whole exome sequencing revealed ultra-rare genetic variations in juvenile myoclonic epilepsy.
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- Neurological Sciences, 2025, v. 46, n. 2, p. 899, doi. 10.1007/s10072-024-07874-1
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- Article
Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene.
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- Neurological Sciences, 2025, v. 46, n. 2, p. 911, doi. 10.1007/s10072-024-07834-9
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- Article
HSD17B4 mutation: an unusual cause of cerebellar ataxia.
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- 2025
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- Publication type:
- Letter
Nuevas variantes en el gen TMEM126B asociadas a la deficiencia del complejo I deshidrogenasa identificadas en paciente pediátrico del Suroccidente Colombiano.
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- Magazine of the Colombian Association of Biological Sciences / Revista de la Asociación Colombiana de Ciencias Biológicas (ACCB), 2024, v. 1, n. 36, p. 118, doi. 10.47499/revistaaccb.v1i36.310
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- Article
Variabilidad genética de Phytophthora infestans sensu lato mediante uso de microsatélites en el sur colombiano.
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- Magazine of the Colombian Association of Biological Sciences / Revista de la Asociación Colombiana de Ciencias Biológicas (ACCB), 2024, v. 1, n. 36, p. 77, doi. 10.47499/revistaaccb.v1i36.314
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- Article
In silico analysis of SNPs and miRNAs of KCTD13, CSDE1, SLC6A1 genes associated with autism spectrum disorder.
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- Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00644-4
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- Article
Molecular Genetic Analysis of Representatives of the Subgenus Sylvaemus (Rodentia, Muridae) in Specially Guarding Natural Areas in the Southern of Russia according to Data Analysis of a Fragment of the Cytochrome b Gene.
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- Biology Bulletin, 2024, v. 51, p. S309, doi. 10.1134/S1062359024611649
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- Article
Genetic Diversity of Western Caucasus Red Deer (Cervus elaphus Linnaeus, 1758) Based on Cytochrome b Gene Study.
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- Biology Bulletin, 2024, v. 51, p. S293, doi. 10.1134/S1062359024611947
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- Article
HIV-1 resistance mutations and genetic diversity among children failing antiretroviral treatment in five healthcare facilities in Benin, West Africa.
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- PLoS ONE, 2025, v. 20, n. 1, p. 1, doi. 10.1371/journal.pone.0317882
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- Article
Megalencephalic Leukoencephalopathy With Subcortical Cysts in an Adult.
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- 2024
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- Abstract
Detection of human noroviruses in sewage by next generation sequencing in Shandong Province, 2019–2021.
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- Virology Journal, 2025, v. 22, n. 1, p. 1, doi. 10.1186/s12985-025-02638-5
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- Article
Genetic diversity of Plasmodium falciparum reticulocyte binding protein homologue-5, which is a potential malaria vaccine candidate: baseline data from areas of varying malaria endemicity in Mainland Tanzania.
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- Malaria Journal, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12936-025-05269-x
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- Article
Chromosome-scale genome assembly of Korean goosegrass (Eleusine indica).
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- Scientific Data, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41597-025-04490-2
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- Article
Human genetic diversity and income inequality.
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- Economics & Business Letters, 2024, v. 13, n. 4, p. 183, doi. 10.17811/ebl.13.4.2024.183-193
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- Article
Association of prolactin gene polymorphism with milk production traits in Gaolao cattle.
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- Journal of the Indonesian Tropical Animal Agriculture, 2024, v. 49, n. 3, p. 193, doi. 10.14710/jitaa.49.3.193-203
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- Article
Association of CYP2A6 gene related to the characteristic carcass, commercial cuts, quality of meat and cholesterol of lamb meat.
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- Journal of the Indonesian Tropical Animal Agriculture, 2024, v. 49, n. 3, p. 204, doi. 10.14710/jitaa.49.3.204-214
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- Article
Short-term evolutionary implications of an introgressed size-determining supergene in a vulnerable population.
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- Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-56126-z
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- Article
Exploring the association between adaptive and growth traits and within-individual genetic diversity in common beech ( Fagus sylvatica).
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- Annals of Forest Research (1844-8135), 2024, v. 67, n. 2, p. 151, doi. 10.15287/afr.2024.3885
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- Article
Diallel crossing (10x10) in Swiss stone pine. Juvenileadult correlations and genetic gain for predicting forward selection.
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- Annals of Forest Research (1844-8135), 2024, v. 67, n. 2, p. 109, doi. 10.15287/afr.2024.3770
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- Article
Genetic diversity of murine norovirus associated with ethanol sensitivity.
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- Applied Microbiology & Biotechnology, 2025, v. 109, n. 1, p. 1, doi. 10.1007/s00253-025-13410-8
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- Article
A prospective pragmatic evaluation of automatic trial matching tools in a molecular tumor board.
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- NPJ Precision Oncology, 2025, v. 9, n. 1, p. 1, doi. 10.1038/s41698-025-00806-y
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- Publication type:
- Article
Roo and hopper Transposable Elements Responsible for Lobe Mutations in Drosophila melanogaster.
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- Bios, 2024, v. 95, p. 198, doi. 10.1893/1943-6289-95.S1.196
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- Article
Salinity Tolerance Screening in Iranian and Afghan Melons (Cucumis melon L.) based on Several Associated Morphological and Physiological Traits.
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- Journal of Agricultural Science & Technology, 2025, v. 27, n. 1, p. 217
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- Article
Genetic parameters and chemical characterization of conilon coffee accessions under irrigation in the Cerrado.
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- Acta Scientiarum: Agronomy, 2024, v. 46, p. 1, doi. 10.4025/actasciagron.v46i1.67754
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- Article
Genetic characterization of Zeyheria tuberculosa progenies and evaluation for formation of a seed orchard.
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- Acta Scientiarum: Agronomy, 2024, v. 46, p. 1, doi. 10.4025/actasciagron.v46i1.66986
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- Article
Future-ready crops, genetic variability in lima bean seeds.
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- Acta Scientiarum: Agronomy, 2024, v. 46, p. 1, doi. 10.4025/actasciagron.v46i1.66767
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- Article
Bayesian and classical approaches for the estimation of genetic parameters and coefficients of repeatability of acerola quality traits.
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- Acta Scientiarum: Agronomy, 2024, v. 46, p. 1, doi. 10.4025/actasciagron.v46i1.64573
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- Article
Accuracy of tree height estimation with model extracted from artificial neural network and new linear and nonlinear models.
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- Acta Scientiarum: Agronomy, 2024, v. 46, p. 1, doi. 10.4025/actasciagron.v46i1.63286
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- Article
Genetic diversity for agronomic and bromatological traits in forage cactus.
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- Acta Scientiarum: Agronomy, 2024, v. 46, p. 1, doi. 10.4025/actasciagron.v46i1.62752
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- Article
Phenotypical characterization of Portulaca umbraticola: A non-conventional edible ornamental crop.
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- Acta Scientiarum: Agronomy, 2024, v. 46, p. 1, doi. 10.4025/actasciagron.v46i1.62326
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- Article
Association of LPCAT1-rs8352 genetic variant with susceptibility and severity of pediatric bronchial asthma: a case-control study.
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- 2025
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- Publication type:
- Case Study
Comparative evaluation of four exome enrichment solutions in 2024: Agilent, Roche, Vazyme and Nanodigmbio.
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- BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-024-11196-z
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- Article
History and prospects of flax genetic markers.
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- Frontiers in Plant Science, 2025, p. 1, doi. 10.3389/fpls.2024.1495069
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- Article